Activation-Induced Cytidine Deaminase (AID) Deficiency Causes the Autosomal Recessive Form of the Hyper-IgM Syndrome (HIGM2)

AbstractThe activation-induced cytidine deaminase (AID) gene, specifically expressed in germinal center B cells in mice, is a member of the cytidine deaminase family. We herein report mutations in the human counterpart of AID in patients with the autosomal recessive form of hyper-IgM syndrome (HIGM2). Three major abnormalities characterize AID deficiency: (1) the absence of immunoglobulin class switch recombination, (2) the lack of immunoglobulin somatic hypermutations, and (3) lymph node hyperplasia caused by the presence of giant germinal centers. The phenotype observed in HIGM2 patients (and in AID−/− mice) demonstrates the absolute requirement for AID in several crucial steps of B cell terminal differentiation necessary for efficient antibody responses

Clinical heterogeneity can hamper the diagnosis of patients with ZAP70 deficiency

One of the severe combined immunodeficiencies (SCIDs), which is caused by a genetic defect in the signal transduction pathways involved in T-cell activation, is the ZAP70 deficiency. Mutations in ZAP70 lead to both abnormal thymic development and defective T-cell receptor (TCR) signaling of peripheral T-cells. In contrast to the lymphopenia in most SCID patients, ZAP70-deficient patients have lymphocytosis, despite the selective absence of CD8+ T-cells. The clinical presentation is usually before 2 years of age with typical findings of SCID. Here, we present three new ZAP70-deficient patients who vary in their clinical presentation. One of the ZAP70-deficient patients presented as a classical SCID, the second patient presented as a healthy looking wheezy infant, whereas the third patient came to clinical attention for the eczematous skin lesions simulating atopic dermatitis with eosinophilia and elevated immunoglobulin E (IgE), similar to the Omenn syndrome. This study illustrates that awareness of the clinical heterogeneity of ZAP70 deficiency is of utmost importance for making a fast and accurate diagnosis, which will contribute to the improvement of the adequate treatment of this severe immunodeficiency

Comparıson of the men and women athletes motivatıon levels involved ın Turkey basketball leagues

Bu araştırmanın amacı, Türkiye Basketbol Liglerinde oynayan erkek ve kadın sporcuların cinsiyet, yaş ve oynadıkları ligler arasındaki motivasyon düzeyleri açısından karşılaştırılmasıdır. Araştırmaya, Türkiye Basketbol Liglerinde oynayan 53 kadın, 78 erkek sporcu katılmış olup, “Spora Özgü Başarı Motivasyonu Ölçeği” (Willis, 1982) Google Drive üzerinden online ankete dönüştürülerek katılımcılara internet üzerinden uygulanmıştır. Araştırmaya 18-23 yaş arasında 58 sporcu, 24-29 yaş arasında 49 sporcu ve 30-35 yaş arasında 21 sporcu katılmıştır. Oynadıkları liglere göre ise, BSL’de oynayan 39, KBSL’de oynayan 12, TBL’de oynayan 18, TKBL’de oynayan 16, TB2L’de oynayan 18, KBBL’de oynayan 25 sporcu katılmıştır. Çalışmaya katılanlardan elde edilen veriler, SPSS 21.0 paket programda “Mann Whitney U” testi, “t” testi, “Independent Simples” testi, “Kruskal Wallis” testi, “Anova” testi ve “Bonferroni” testi kullanılarak değerlendirmeye alınmıştır. İstatistiksel olarak anlamlılık için bazı verilerde (p>0,05) anlamlılık düzeyi seçilirken bazı verilerde ise (p>0,0083) anlamlılık düzeyi seçilmiştir. Farlılıkları belirlemek üzere ölçekteki güç gösterme güdüsü, başarıya yaklaşma güdüsü ve başarısızlıktan kaçınma güdüsünden elde edilen verilerle karşılaştırmalar yapılmıştır. Değerlendirmeler sonucunda hiçbir veride güç gösterme güdüsünde anlamlı fark bulunmamıştır (p>0,05, p>0,0083). Bazı verilerde başarıya yaklaşma güdüsü açısından (p<0,05, p<0,0083), bazı verilerde ise başarısızlıktan kaçınma güdüsünde anlamlı fark bulunmuştur (p<0,05, p<0,0083).purpose of this research is to determine whether there is a difference in terms of motivation levels male and female athletes of gender, age and between the played leagues in the playing Turkish Basketball Leagues. Research, Turkey Basketball League playing in 53 female and 75 male athletes participated, "Sport-Specific Achievement Motivation Scale" (Wills, 1982) converted into an online survey via Google Drive and applied over the internet. In the study, 58 athletes between 18-23 years old, 49 between 24-29 years old and 21 between 30-35 years old participated. According to the league they play, Basketball Super League playing in the 39, Women's Basketball Super League playing in the 12, Turkey Basketball League playing in the 18, Turkey Women Basketball League playing in the 16, Turkey Basketball Second League playing in the 18, Women Regional Basketball League playing in the 25 athletes participated. The data obtained from the participants were evaluated using the "Mann Whitney U" test, "t" test, "Independent Simples" test, "Kruskal Wallis" test, "Anova" test and "Bonferroni" test in SPSS 21.0 package program. While the significance level (p> 0.05) was selected for some data for statistical significance, the level of significance (p> 0.0083) was selected by using the "bonferroni" test for some data. To identify differences, comparisons were made with data from the scale's power of motive (POW), motive to approach success (MAS) and motive to avoid failure (MAF). As a result of the evaluations, no significant difference was found in the motivation to show power (POW) in any data (p> 0.05, p> 0.0083). A significant difference was found in terms of the motive to approach success (MAS) in some data, and in the motive to avoid failure (MAF) in some data (p <0.05, p <0.0083)

Primary Immunodeficiencies Associated With Atopic Dermatitis

Atopic dermatitis is the most common skin disease seen during childhood. Other allergic diseases may accompany atopic dermatitis and increased IgE and peripheral blood eosinophilia are common findings. Patients with atopic dermatitis who do not respond to standard treatment measures should be reassessed for differential diagnosis. Early-onset, treatment resistant severe atopic dermatitis with recurrent infection history apart from the infections occurring due to defective skin integrity are the warning signs for an underlying primary immunodeficiency. Clinicians should always remember that atopic dermatitis may be the first finding of an underlying primer immunodeficiency in patients. The sooner the diagnosis is made, the more likely it will be to avoid complications and morbidity.Wo

The Significance Of Western Blot In Primary Immunodeficiencies: Examples From Two Families

Introduction: Primary immunodeficiencies (PID) with extended clinical spectrum, evaluated in rare genetic disorders, are difficult to diagnose and treat. Utilization of the next generation sequencing more than 300 genes have been associated with PIDs and new genes are continued to be determined. Even though, variants identified by the next generation sequencing are described as pathogenic in silico, investigating their possible pathogenic roles by analysing protein expression is crucial in patients. Western blot method is an old and reliable method used in molecular biology to investigate the responses of intracellular and extracellular proteins to exogenous stimuli and evaluate protein expression as existing or lost, increased or decreased as well as determining cell-specific protein isoforms, and in particular truncated proteins responsible for occurrence of a disease. Material and Methods: In this study, STK4 and LRBA protein expressions were evaluated with western blot in three patients from two families having STK4 variants and one patient having LRBA variant from a family. Results: It was determined that protein expression was lost in patients. Conclusions: New variants were evaluated as pathogenic due to lose of protein expressions in patients.WoSScopu